ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825749236
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94358
ClinVar RCV Id:
RCV000595897
RCV000790709
RCV001237531
RCV001814050
RCV003317083
RCV003466990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Thr252Met
CA222210
NM_001130977.2:c.755C>T